Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia

Clin Dysmorphol. 2009 Apr;18(2):90-91. doi: 10.1097/MCD.0b013e3283279a0f.

Authors

Benjamin D Solomon¹, Parvathi Mohan, Cynthia J Tifft

Affiliation

¹ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Departments of Gastroenterology Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.

PMID: 19282754
DOI: 10.1097/MCD.0b013e3283279a0f

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amyloid beta-Peptides / genetics*
Congenital Abnormalities / genetics*
Consanguinity
Female
Genes, Recessive
Homozygote
Humans
Hypobetalipoproteinemias / diagnosis
Hypobetalipoproteinemias / genetics*
Infant

Substances

Amyloid beta-Peptides